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Identification of NCAN as a candidate gene for developmental dyslexia
A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD) revealed several regions shared by the affected individuals. Analysis of coding variants from two affected individuals identified rs146011974G > A (Ala1039Thr), a rare variant within the NCAN gen...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570950/ https://www.ncbi.nlm.nih.gov/pubmed/28839234 http://dx.doi.org/10.1038/s41598-017-10175-7 |
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author | Einarsdottir, Elisabet Peyrard-Janvid, Myriam Darki, Fahimeh Tuulari, Jetro J. Merisaari, Harri Karlsson, Linnea Scheinin, Noora M. Saunavaara, Jani Parkkola, Riitta Kantojärvi, Katri Ämmälä, Antti-Jussi Yiu-Lin Yu, Nancy Matsson, Hans Nopola-Hemmi, Jaana Karlsson, Hasse Paunio, Tiina Klingberg, Torkel Leinonen, Eira Kere, Juha |
author_facet | Einarsdottir, Elisabet Peyrard-Janvid, Myriam Darki, Fahimeh Tuulari, Jetro J. Merisaari, Harri Karlsson, Linnea Scheinin, Noora M. Saunavaara, Jani Parkkola, Riitta Kantojärvi, Katri Ämmälä, Antti-Jussi Yiu-Lin Yu, Nancy Matsson, Hans Nopola-Hemmi, Jaana Karlsson, Hasse Paunio, Tiina Klingberg, Torkel Leinonen, Eira Kere, Juha |
author_sort | Einarsdottir, Elisabet |
collection | PubMed |
description | A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD) revealed several regions shared by the affected individuals. Analysis of coding variants from two affected individuals identified rs146011974G > A (Ala1039Thr), a rare variant within the NCAN gene co-segregating with DD in the pedigree. This variant prompted us to consider this gene as a putative candidate for DD. The RNA expression pattern of the NCAN gene in human tissues was highly correlated (R > 0.8) with that of the previously suggested DD susceptibility genes KIAA0319, CTNND2, CNTNAP2 and GRIN2B. We investigated the association of common variation in NCAN to brain structures in two data sets: young adults (Brainchild study, Sweden) and infants (FinnBrain study, Finland). In young adults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter volume in the left and right temporoparietal as well as the left inferior frontal brain regions. In infants, this same variant was found to be associated with cingulate and prefrontal grey matter volumes. Our results suggest NCAN as a new candidate gene for DD and indicate that NCAN variants affect brain structure. |
format | Online Article Text |
id | pubmed-5570950 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-55709502017-09-01 Identification of NCAN as a candidate gene for developmental dyslexia Einarsdottir, Elisabet Peyrard-Janvid, Myriam Darki, Fahimeh Tuulari, Jetro J. Merisaari, Harri Karlsson, Linnea Scheinin, Noora M. Saunavaara, Jani Parkkola, Riitta Kantojärvi, Katri Ämmälä, Antti-Jussi Yiu-Lin Yu, Nancy Matsson, Hans Nopola-Hemmi, Jaana Karlsson, Hasse Paunio, Tiina Klingberg, Torkel Leinonen, Eira Kere, Juha Sci Rep Article A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD) revealed several regions shared by the affected individuals. Analysis of coding variants from two affected individuals identified rs146011974G > A (Ala1039Thr), a rare variant within the NCAN gene co-segregating with DD in the pedigree. This variant prompted us to consider this gene as a putative candidate for DD. The RNA expression pattern of the NCAN gene in human tissues was highly correlated (R > 0.8) with that of the previously suggested DD susceptibility genes KIAA0319, CTNND2, CNTNAP2 and GRIN2B. We investigated the association of common variation in NCAN to brain structures in two data sets: young adults (Brainchild study, Sweden) and infants (FinnBrain study, Finland). In young adults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter volume in the left and right temporoparietal as well as the left inferior frontal brain regions. In infants, this same variant was found to be associated with cingulate and prefrontal grey matter volumes. Our results suggest NCAN as a new candidate gene for DD and indicate that NCAN variants affect brain structure. Nature Publishing Group UK 2017-08-24 /pmc/articles/PMC5570950/ /pubmed/28839234 http://dx.doi.org/10.1038/s41598-017-10175-7 Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Einarsdottir, Elisabet Peyrard-Janvid, Myriam Darki, Fahimeh Tuulari, Jetro J. Merisaari, Harri Karlsson, Linnea Scheinin, Noora M. Saunavaara, Jani Parkkola, Riitta Kantojärvi, Katri Ämmälä, Antti-Jussi Yiu-Lin Yu, Nancy Matsson, Hans Nopola-Hemmi, Jaana Karlsson, Hasse Paunio, Tiina Klingberg, Torkel Leinonen, Eira Kere, Juha Identification of NCAN as a candidate gene for developmental dyslexia |
title | Identification of NCAN as a candidate gene for developmental dyslexia |
title_full | Identification of NCAN as a candidate gene for developmental dyslexia |
title_fullStr | Identification of NCAN as a candidate gene for developmental dyslexia |
title_full_unstemmed | Identification of NCAN as a candidate gene for developmental dyslexia |
title_short | Identification of NCAN as a candidate gene for developmental dyslexia |
title_sort | identification of ncan as a candidate gene for developmental dyslexia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570950/ https://www.ncbi.nlm.nih.gov/pubmed/28839234 http://dx.doi.org/10.1038/s41598-017-10175-7 |
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